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5 Result(s)

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Result(s)sorted by

Caption : Accreditation =Accreditation
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    • Molecular diagnosis of Chondrodysplasia Punctata (EBP, PEX7, DHAPAT, AGPS and ARSE genes)
    • Royal Devon and Exeter Hospital - Wonford site
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • UNITED KINGDOM
    • Devon
    • EXETER
    • Accreditation
    • Molecular Diagnosis of Connective Tissue Disorder with Bone Involvement NGS Panel (43 genes)
    • The Hospital for Sick Children and University of Toronto
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • CANADA
    • Ontario
    • TORONTO
    • Accreditation
    • Biochemical diagnosis of non rhizomelic type of punctata chondrodysplasia
    • Faculté de Médecine Pierre et Marie Curie - Hôpital Saint-Antoine
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of Chondrodysplasia Punctata (EBP, Mutation analysis)
    • Assaf Harofeh Medical Center
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ISRAEL
    • ISRAEL
    • BEER YAAKOV
    • Molecular diagnosis of chondrodysplasia punctata (EBP gene)
    • Innovagenomics, S.L.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Castilla - León
    • SALAMANCA